Case Of Lhermitte-Duclos Disease Research Articles

“Leopard skin” sign: Magnetic resonance imaging appearance of Lhermitte-Duclos disease with histopathologic correlation

Dysplastic cerebellar gangliocytoma or Lhermitte-Duclos disease (LDD) is a rare hamartomatous malformation of cerebellum that can occur in isolation or as a component of Cowden syndrome. Although uncommon, the characteristic clinical symptoms and magnetic resonance imaging (MRI) features are highly suggestive of the condition and histopathological features confirm the diagnosis. We report a case of LDD, presenting with “Leopard skin” appearance of the lesion on MRI with a brief review of imaging, clinical, and histopathological features.

Rare Dysplastic Gangliocytoma of Cerebellum: A Case Report

Lhermitte and Duclos first described Dysplastic Gangliocytoma in 1920. Lhermitte Duclos Disease (LDD) is an extremely rare disorder of uncertain prognosis and pathogenesis. LDD is recognised as a part of Cowden Disease, which being an autosomal-dominant phacomatosis and cancer syndrome. Till date only about 225 cases of LDD have currently been reported in medical literature. It is most commonly seen in young adults with a peak incidence in third or fourth decade with signs and symptoms of cerebellar dysfunction or increased intracranial pressure leading to obstructive hydrocephalus. A 36-year-old female came to Neuromedicine Outpatient Department (OPD) in a Tertiary Care Superspecialty Hospital with chief complaints of headache and vomiting, difficulty in swallowing liquid food since two months with no significant family history. The patient’s general condition was not good with significant weakness on presentation. The patient was conscious, oriented with pulse rate of 78/bpm, blood pressure of 118/80 mm of Hg with bilateral clear chest with normal S1 S2 sound. The Glasgow Coma Scale (GCS) was found to be Eye response-4, Verbal response-5, Motor response-6. Magnetic Resonance Imaging (MRI) of patient showed large heterogeneous non-enhancing lesion involving left cerebellar hemisphere, vermis and cerebellar peduncle with widened cerebellar folia with a “Tigroid appearance”. A diagnosis of Cerebellar Gangliocytoma was made and was treated successfully with surgery and diagnostically proven with biopsy and immunohistochemistry. The background history of Cowden syndrome was not present in index case.

Lhermitte–Duclos disease (dysplastic cerebellar gangliocytoma)

Dear Editor, We read the article entitled “Cowden syndrome diagnosed by Lhermitte–Duclos disease” in the esteemed “Formosan Journal of Surgery” with great interest. Che Chen et al. reported a case of an adult female presenting with dizziness and headache. A brain magnetic resonance imaging (MRI) showed a cerebellar lesion, in which the histological findings were of dysplastic cerebellar gangliocytoma.[1] Lhermitte–Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare genetic disorder, which is characterized by abnormal development of the cerebellum that can increase intracranial pressure. In this context, it could occur isolated or associated with Cowden syndrome. Moreover, this disease has some histological hallmarks such as thickening and hypermyelination of the outer molecular layer, loss of Purkinje cells and white matter, dysplastic ganglion cells with rounded nuclei, and abundant mitochondria invading the inner granular layer.[2] Here, we would like to highlight some important topics that together with the study of Che Chen et al. could lead to a better comprehension of LDD. In addition, we developed a mnemonic to remember the facts of LDD that is DUCLOS: Dysplastic cerebellar gangliocytoma; Unilateral hamartomatous mass with tigroid appearance on MRI; Cowden syndrome association; Later in life 3rd and 4th decades of life; Overpressure by the tumor leads to neurological symptoms; S uppressor gene PTEN mutation in at least 10% of the individuals.[123456] A recent genetic study about LDD was published by Colby et al. They reported a case of an adult female diagnosed with LDD and wild type for phosphatase and tensin homolog. When the exome sequencing was analyzed, it revealed an extracellular domain mutation in the epidermal growth factor receptor gene, which resulted in constitutive activation. Thus, this study was important because it supports a new hypothesis for the pathophysiology of LDD and contributes to a possible new therapy for the treatment of this disease.[4] In 2015, Bosemani et al. reported a case of pseudotumoral hemicerebellitis (PTHC) mimicking LDD in children, and they raised an important question asking about if neuroimaging can differentiate these two entities. A literature review revealed that conventional evaluation may help differ the diseases. Furthermore, they provide some features that if present are suggestive of LDD such as lesion-affecting brainstem, striated folial pattern, and thickened cerebellar folia surrounded by enlarged veins. Otherwise, if brain MRI has postgadolinium enhancement and a choline peak spectroscopy, PTHC could not be ruled out.[3] Zak et al. reported a case of LDD where surgical removal was not a possible option. Hence, a rapamycin trial based on a previous study about the pathological mechanism of LDD and the use of this medication was done. Rapamycin causes a downstream of some tissue growth factors that are associated with LDD. The infant reported in their study was diagnosed with LDD at 18 months, and rapamycin was started. On follow-up, the infant had full recovery including imaging that did not reveal the previous brainstem compression and distortion of pituitary stalk.[6] In another study, high-definition fiber tractography was done for surgical planning. Fernandes-Cabral et al. concluded that tractography is an important method that should be performed in surgical cases because it could reveal abnormalities not evident on conventional assessment. Therefore, this can allow maximal resection of the lesion, avoid damaging of unaffected tracts, and decrease tumoral recurrence.[5] Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter

Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most frequent presenting signs and symptoms are megalocephaly, increased intracranial pressure, nausea, hydrocephalus, ataxia, gait abnormalities, and intermittent headaches, all of which are attributed to the mass effect [6,11,25]. Many cases are associated with a mutation in the phosphatase and tensin homolog or PTEN gene which is also involved in numerous otherwise unrelated central nervous system abnormalities, namely Cowden syndrome [1,6,11], autism spectrum disorder [18], cerebral cortical dysplasia [11,30] and Bannayan-Riley-Ruvalcaba syndrome [30]. The presence of cortical heterotopia has been reported in a small number of LDD cases [3,5,17,32]. We describe a unique case of LDD with cerebral cortical heterotopic grey matter containing neurofibrillary tangles.

A Case of Lhermitte Duclos Disease with Difficult Airway for Vp Shunting Under General Anaesthesia

Lhermitte Duclos Disease is commonly associated with progressive mass effects of posterior fossa and typically presents with headaches, cerebellar dysfunction, occlusive hydrocephalus and cranial nerve palsies. The anaesthetic management of these patients requires clear understanding of the disease. Here we describe anaesthetic management of an 18 year old female having Lhermitte Duclos Disease posted for VP Shunting under general anaesthesia.

Bilateral Lhermitte-Duclos disease

Lhermitte-Duclos disease (LDD) is a pathologic entity with progrediating, diffuse hypertrophy chiefly of the stratum granulosum of the cerebellum. Typically LDD is a unilateral lesion of the cerebellum or in vermis. Here we report a case of LDD with bilateral lesions of cerebellar hemispheres managed surgically. A 28-year-old woman presented with one-year history of progressive headache, nausea, vomiting, and blurred vision. Neurologic examination revealed a bilateral mild papilledema, mild dysmetria, and dysdiadochokinesia. The cerebellar lesions caused moderate mass effect in posterior fossa with hydrocephalus, and Chiari type I malformation. We performed the suboccipital-retrosigmoid approach, and removed completely the left intracerebellar mass. Symptoms related to elevated intracranial pressure disappeared in a short period postoperatively.

Case 144: Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease)

A 28-year-old right-handed man presented with longstanding occipital headache, progressive ataxia, and blurred vision. He had begun vomiting 8-10 days earlier. He had no other important history. Neurologic examination revealed average intelligence and was remarkable for cerebellar ataxia. Papilledema was noted at fundoscopy. Magnetic resonance (MR) imaging of the brain was performed. No abnormality was noted on apparent diffusion coefficient maps or T2 * -weighted gradient-echo images (not shown).

Lhermitte-Duclos disease with atypical vascularization – case report and review of the literature

A case of Lhermitte-Duclos disease (LDD, dysplastic gangliocytoma) with atypical vascularization is reported. LDD is a rare cerebellar mass lesion which may be associated with Cowden's syndrome and the PTEN germline mutation. A 61-year-old male presented 15 years before with a transient episode of unspecific gait disturbance. Initial magnetic resonance (MR) imaging revealed a right-sided, diffuse, nonenhancing cerebellar mass lesion. No definitive diagnosis was made at that time, and the symptoms resolved spontaneously. 15 years later, the patient presented with acute onset of vomiting associated with headache and ataxic gait. MR imaging showed a progression of the lesion with occlusive hydrocephalus. The lesion depicted a striated pattern characteristic for LDD with T1-hypointense and T2-hyperintense bands, nonenhancing with contrast. After resection of the mass lesion, the cerebellar and hydrocephalic symptoms improved rapidly. The pathological examination confirmed the diagnosis of dysplastic gangliocytoma (WHO Grade I) with enlarged granular and molecular cell layers, reactive gliosis and dysplastic blood vessels. No other clinical features associated with Cowden's syndrome were present. This case illustrates that LDD with atypical vascularization is a slow-growing posterior fossa mass lesion which may remain asymptomatic for many years. Timing of surgical treatment and extent of resection in patients with LDD is controversial. The typical features on standard T1-/T2-weighted MR imaging allow a diagnosis without surgery in most cases. The authors believe that the decision to treat in these cases should be based on clinical deterioration.

Morphological and functional MR imaging of Lhermitte–Duclos disease with pathology correlate

Lhermitte-Duclos disease (LDD) is a rare benign lesion of uncertain pathogenesis characterised by distortion of the normal cerebellar laminar cytoarchitecture. We report a case of LDD thoroughly characterized by advanced magnetic resonance imaging techniques, with diffusion-weighted, perfusion-weighted and post-gadolinium sequences. Imaging showed restricted diffusion consistent with high cellularity, high degree of vascularity and preserved blood-brain barrier permeability, correlating with pathology.

MR Spectroscopy Findings in Lhermitte-Duclos Disease

Lhermitte-Duclos disease (LDD) is a rare hamartomatous focal or diffuse enlargement of the cerebellum with unclear etiology. The characteristic magnetic resonance imaging (MRI) appearance consists of a non-enhancing mass in the cerebellar hemisphere with a striated pattern. The slow growing behavior of this benign lesion is characteristic. In a few reports on magnetic resonance spectroscopy (MRS) findings in LDD, a decreased level of N-acetyl aspartate, increased level of lactate and near normal level of choline were described. The information obtained from MRS is useful to confirm the relatively benign hamartomatous nature of the lesion. This paper reports a case of LDD and describes the MRI and MRS findings.

A case of Lhermitte-Duclos disease presenting high FDG uptake on FDG-PET/CT

Lhermitte-Duclos Disease (LDD) is a rare cerebellar lesion that has long been controversial as to whether the entity is a hamartoma, a malformation, or a neoplasm. Recent advances in metabolic imaging and molecular biology have unveiled biological features of LDD and a close relationship between LDD and Cowden disease. Adult onset LDD is now considered identical to Cowden disease in a US guideline. We present a case of LDD, in which high fluorodeoxy glucose (FDG) uptake was shown on PET/CT. We performed dual time point scans, in which a delayed scan exhibited more intense FDG uptake by the hamartomatous lesion than an early scan. We must remain aware of the possibility of LDD when intense accumulation is observed in a cerebellar lesion on FDG-PET/CT imaging.

Cowden disease and Lhermitte–Duclos disease: an update

Cowden disease is a rare autosomal-dominant phacomatosis and cancer syndrome that is associated with Lhermitte-Duclos disease (LDD), also called dysplastic cerebellar gangliocytoma. In this review the authors summarize the additions to the literature during the past 5 years, with emphasis on new case reports and advances in imaging and molecular biology. Adult-onset LDD is now considered pathognomonic for Cowden disease. Approximately 220 cases of LDD have been reported. Magnetic resonance imaging in patients with LDD is often diagnostic, and imaging studies have facilitated accurate diagnosis and contributed to the improved outcome in affected patients. Cowden disease and other rare, related disorders, such as Bannayan-Riley-Ruvalcaba, Proteus, and Proteus- like syndromes, are often caused by mutations of the PTEN gene. Because of the high incidence of systemic cancer in patients with Cowden disease, it is important for neurosurgeons to recognize the association between this disease and LDD and to refer affected patients for appropriate cancer screenings and interventions.

Lhermitte‐duclos disease associated with neurofibromatosis type‐1 and non‐ossifying fibroma

Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder of uncertain pathogenesis characterized by enlargement of cerebellar folia. Magnetic resonance imaging is the diagnostic modality of choice and usually distinguishes the LDD by its characteristic "striated or laminated pattern" appearance. Various additional abnormalities have been reported in association with LDD. We report a case of LDD coexisting with neurofibromatosis type 1 (NF-1) and non-ossifying fibroma.

Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults

Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous overgrowth disorder. LDD can be familial or, more commonly, sporadic. It has been only recently recognized that LDD may be associated with Cowden syndrome (CS). Over 80% of patients with CS carry germline mutations in PTEN. It remains unclear whether all cases of LDD, even without features of CS, are caused by germline PTEN mutation and whether somatic PTEN mutation occurs in sporadic LDD. We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN. Overall, 15 (83%) of 18 samples were found to carry a PTEN mutation. All individuals with mutations were adult-onset patients, but the three without mutations were diagnosed at the ages of 1, 3, and 11 years. Germline DNA was available from six adult-onset cases, and all had germline PTEN mutations. Of these six, two had CS features, one did not have CS features, and three were of unknown CS status. Immunohistochemistry revealed that 75% of the LDD samples had complete or partial loss of PTEN expression accompanied by elevated phosphorylated Akt, specifically in the dysplastic gangliocytoma cells. These data suggest that the loss of PTEN function is sufficient to cause LDD. The high frequency and spectrum of germline PTEN mutations in patients ascertaining by LDD alone confirm that LDD is an important defining feature of CS. Individuals with LDD, even without apparent CS features, should be counseled as in CS.

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)

A case of Lhermitte-Duclos disease (LDD) was recognised in an adult woman with minimal symptomatology. Although histological proof is not available, a confident radiological diagnosis is possible due to the characteristic radiological features of this rare condition. The MR imaging features of this condition are discussed, with a short review of the literature.